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Article

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

BMC medical genetics - 13 Dec 2016

López María, Seidel Verónica, Santibáñez Paula, Cervera-Acedo Cristina, Castro-de Castro Pedro, Domínguez-Garrido Elena

Abstract excerpt

BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations. CASE...

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Source

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Identifiers

PMID: 27964710
DOI: 10.1186/s12881-016-0361-8
PMCID: PMC5154174

Genes

CREBBP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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